Canonical Allele Identifier: CA10286392

Gene: FBLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45503059C>T , CM000684.2:g.45503059C>T	GRCh38
NC_000022.10:g.45898939C>T , CM000684.1:g.45898939C>T	GRCh37
NC_000022.9:g.44277603C>T	NCBI36
NG_023308.2:g.5221C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006486.3:c.74C>T MANE Select	NP_006477.3:p.Ala25Val
ENST00000327858.11:c.74C>T MANE Select	ENSP00000331544.6:p.Ala25Val
NM_001996.3:c.74C>T	NP_001987.2:p.Ala25Val
NM_001996.4:c.74C>T	NP_001987.3:p.Ala25Val
NM_006485.3:c.74C>T	NP_006476.2:p.Ala25Val
NM_006485.4:c.74C>T	NP_006476.3:p.Ala25Val
NM_006486.2:c.74C>T	NP_006477.2:p.Ala25Val
NM_006487.2:c.74C>T	NP_006478.2:p.Ala25Val
NM_006487.3:c.74C>T	NP_006478.3:p.Ala25Val
ENST00000262722.11:c.74C>T	ENSP00000262722.7:p.Ala25Val
ENST00000327858.10:c.74C>T	ENSP00000331544.6:p.Ala25Val
ENST00000340923.9:c.74C>T	ENSP00000342212.5:p.Ala25Val
ENST00000402984.7:c.74C>T	ENSP00000385521.3:p.Ala25Val
ENST00000411478.5:c.103+719C>T	ENSP00000415289.1:n.103+719C>T
ENST00000439835.1:c.14C>T	ENSP00000395329.2:p.Ala5Val
ENST00000442170.6:c.74C>T	ENSP00000393812.2:p.Ala25Val
ENST00000445110.5:c.-106+571C>T	ENSP00000404024.1:n.-106+571C>T
ENST00000455233.5:c.74C>T	ENSP00000402963.1:p.Ala25Val